Metabolic Disorders
(E70) Disorders of aromatic amino-acid metabolism
(E70.0) Classical phenylketonuria
(E70.1) Other hyperphenylalaninemias
(E70.2) Disorders of tyrosine metabolism
(E70.20) Disorder of tyrosine metabolism, unspecified
(E70.21) Tyrosinemia
(E70.29) Other disorders of tyrosine metabolism
(E70.3) Albinism
(E70.30) Albinism, unspecified
(E70.31) Ocular albinism
(E70.310) X-linked ocular albinism
(E70.311) Autosomal recessive ocular albinism
(E70.318) Other ocular albinism
(E70.319) Ocular albinism, unspecified
(E70.32) Oculocutaneous albinism
(E70.320) Tyrosinase negative oculocutaneous albinism
(E70.321) Tyrosinase positive oculocutaneous albinism
(E70.328) Other oculocutaneous albinism
(E70.329) Oculocutaneous albinism, unspecified
(E70.33) Albinism with hematologic abnormality
(E70.330) Chediak-Higashi syndrome
(E70.331) Hermansky-Pudlak syndrome
(E70.338) Other albinism with hematologic abnormality
(E70.339) Albinism with hematologic abnormality, unspecified
(E70.39) Other specified albinism
(E70.4) Disorders of histidine metabolism
(E70.40) Disorders of histidine metabolism, unspecified
(E70.41) Histidinemia
(E70.49) Other disorders of histidine metabolism
(E70.5) Disorders of tryptophan metabolism
(E70.8) Other disorders of aromatic amino-acid metabolism
(E70.9) Disorder of aromatic amino-acid metabolism, unspecified
(E71) Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
(E71.0) Maple-syrup-urine disease
(E71.1) Other disorders of branched-chain amino-acid metabolism
(E71.11) Branched-chain organic acidurias
(E71.110) Isovaleric acidemia
(E71.111) 3-methylglutaconic aciduria
(E71.118) Other branched-chain organic acidurias
(E71.12) Disorders of propionate metabolism
(E71.120) Methylmalonic acidemia
(E71.121) Propionic acidemia
(E71.128) Other disorders of propionate metabolism
(E71.19) Other disorders of branched-chain amino-acid metabolism
(E71.2) Disorder of branched-chain amino-acid metabolism, unspecified
(E71.3) Disorders of fatty-acid metabolism
(E71.30) Disorder of fatty-acid metabolism, unspecified
(E71.31) Disorders of fatty-acid oxidation
(E71.310) Long chain/very long chain acyl CoA dehydrogenase deficiency
(E71.311) Medium chain acyl CoA dehydrogenase deficiency
(E71.312) Short chain acyl CoA dehydrogenase deficiency
(E71.313) Glutaric aciduria type II
(E71.314) Muscle carnitine palmitoyltransferase deficiency
(E71.318) Other disorders of fatty-acid oxidation
(E71.32) Disorders of ketone metabolism
(E71.39) Other disorders of fatty-acid metabolism
(E71.4) Disorders of carnitine metabolism
(E71.40) Disorder of carnitine metabolism, unspecified
(E71.41) Primary carnitine deficiency
(E71.42) Carnitine deficiency due to inborn errors of metabolism
(E71.43) Iatrogenic carnitine deficiency
(E71.44) Other secondary carnitine deficiency
(E71.440) Ruvalcaba-Myhre-Smith syndrome
(E71.448) Other secondary carnitine deficiency
(E71.5) Peroxisomal disorders
(E71.50) Peroxisomal disorder, unspecified
(E71.51) Disorders of peroxisome biogenesis
(E71.510) Zellweger syndrome
(E71.511) Neonatal adrenoleukodystrophy
(E71.518) Other disorders of peroxisome biogenesis
(E71.52) X-linked adrenoleukodystrophy
(E71.520) Childhood cerebral X-linked adrenoleukodystrophy
(E71.521) Adolescent X-linked adrenoleukodystrophy
(E71.522) Adrenomyeloneuropathy
(E71.528) Other X-linked adrenoleukodystrophy
(E71.529) X-linked adrenoleukodystrophy, unspecified type
(E71.53) Other group 2 peroxisomal disorders
(E71.54) Other peroxisomal disorders
(E71.540) Rhizomelic chondrodysplasia punctata
(E71.541) Zellweger-like syndrome
(E71.542) Other group 3 peroxisomal disorders
(E71.548) Other peroxisomal disorders
(E72) Other disorders of amino-acid metabolism
(E72.0) Disorders of amino-acid transport
(E72.00) Disorders of amino-acid transport, unspecified
(E72.01) Cystinuria
(E72.02) Hartnup's disease
(E72.03) Lowe's syndrome
(E72.04) Cystinosis
(E72.09) Other disorders of amino-acid transport
(E72.1) Disorders of sulfur-bearing amino-acid metabolism
(E72.10) Disorders of sulfur-bearing amino-acid metabolism, unspecified
(E72.11) Homocystinuria
(E72.12) Methylenetetrahydrofolate reductase deficiency
(E72.19) Other disorders of sulfur-bearing amino-acid metabolism
(E72.2) Disorders of urea cycle metabolism
(E72.20) Disorder of urea cycle metabolism, unspecified
(E72.21) Argininemia
(E72.22) Arginosuccinic aciduria
(E72.23) Citrullinemia
(E72.29) Other disorders of urea cycle metabolism
(E72.3) Disorders of lysine and hydroxylysine metabolism
(E72.4) Disorders of ornithine metabolism
(E72.5) Disorders of glycine metabolism
(E72.50) Disorder of glycine metabolism, unspecified
(E72.51) Non-ketotic hyperglycinemia
(E72.52) Trimethylaminuria
(E72.53) Hyperoxaluria
(E72.59) Other disorders of glycine metabolism
(E72.8) Other specified disorders of amino-acid metabolism
(E72.9) Disorder of amino-acid metabolism, unspecified
(E73) Lactose intolerance
(E73.0) Congenital lactase deficiency
(E73.1) Secondary lactase deficiency
(E73.8) Other lactose intolerance
(E73.9) Lactose intolerance, unspecified
(E74) Other disorders of carbohydrate metabolism
(E74.0) Glycogen storage disease
(E74.00) Glycogen storage disease, unspecified
(E74.01) von Gierke disease
(E74.02) Pompe disease
(E74.03) Cori disease
(E74.04) McArdle disease
(E74.09) Other glycogen storage disease
(E74.1) Disorders of fructose metabolism
(E74.10) Disorder of fructose metabolism, unspecified
(E74.11) Essential fructosuria
(E74.12) Hereditary fructose intolerance
(E74.19) Other disorders of fructose metabolism
(E74.2) Disorders of galactose metabolism
(E74.20) Disorders of galactose metabolism, unspecified
(E74.21) Galactosemia
(E74.29) Other disorders of galactose metabolism
(E74.3) Other disorders of intestinal carbohydrate absorption
(E74.31) Sucrase-isomaltase deficiency
(E74.39) Other disorders of intestinal carbohydrate absorption
(E74.4) Disorders of pyruvate metabolism and gluconeogenesis
(E74.8) Other specified disorders of carbohydrate metabolism
(E74.9) Disorder of carbohydrate metabolism, unspecified
(E75) Disorders of sphingolipid metabolism and other lipid storage disorders
(E75.0) GM2 gangliosidosis
(E75.00) GM2 gangliosidosis, unspecified
(E75.01) Sandhoff disease
(E75.02) Tay-Sachs disease
(E75.09) Other GM2 gangliosidosis
(E75.1) Other and unspecified gangliosidosis
(E75.10) Unspecified gangliosidosis
(E75.11) Mucolipidosis IV
(E75.19) Other gangliosidosis
(E75.2) Other sphingolipidosis
(E75.21) Fabry (-Anderson) disease
(E75.22) Gaucher disease
(E75.23) Krabbe disease
(E75.24) Niemann-Pick disease
(E75.240) Niemann-Pick disease type A
(E75.241) Niemann-Pick disease type B
(E75.242) Niemann-Pick disease type C
(E75.243) Niemann-Pick disease type D
(E75.248) Other Niemann-Pick disease
(E75.249) Niemann-Pick disease, unspecified
(E75.25) Metachromatic leukodystrophy
(E75.29) Other sphingolipidosis
(E75.3) Sphingolipidosis, unspecified
(E75.4) Neuronal ceroid lipofuscinosis
(E75.5) Other lipid storage disorders
(E75.6) Lipid storage disorder, unspecified
(E76) Disorders of glycosaminoglycan metabolism
(E76.0) Mucopolysaccharidosis, type I
(E76.01) Hurler's syndrome
(E76.02) Hurler-Scheie syndrome
(E76.03) Scheie's syndrome
(E76.1) Mucopolysaccharidosis, type II
(E76.2) Other mucopolysaccharidoses
(E76.21) Morquio mucopolysaccharidoses
(E76.210) Morquio A mucopolysaccharidoses
(E76.211) Morquio B mucopolysaccharidoses
(E76.219) Morquio mucopolysaccharidoses, unspecified
(E76.22) Sanfilippo mucopolysaccharidoses
(E76.29) Other mucopolysaccharidoses
(E76.3) Mucopolysaccharidosis, unspecified
(E76.8) Other disorders of glucosaminoglycan metabolism
(E76.9) Glucosaminoglycan metabolism disorder, unspecified
(E77) Disorders of glycoprotein metabolism
(E77.0) Defects in post-translational modification of lysosomal enzymes
(E77.1) Defects in glycoprotein degradation
(E77.8) Other disorders of glycoprotein metabolism
(E77.9) Disorder of glycoprotein metabolism, unspecified
(E78) Disorders of lipoprotein metabolism and other lipidemias
(E78.0) Pure hypercholesterolemia
(E78.1) Pure hyperglyceridemia
(E78.2) Mixed hyperlipidemia
(E78.3) Hyperchylomicronemia
(E78.4) Other hyperlipidemia
(E78.5) Hyperlipidemia, unspecified
(E78.6) Lipoprotein deficiency
(E78.7) Disorders of bile acid and cholesterol metabolism
(E78.70) Disorder of bile acid and cholesterol metabolism, unspecified
(E78.71) Barth syndrome
(E78.72) Smith-Lemli-Opitz syndrome
(E78.79) Other disorders of bile acid and cholesterol metabolism
(E78.8) Other disorders of lipoprotein metabolism
(E78.81) Lipoid dermatoarthritis
(E78.89) Other lipoprotein metabolism disorders
(E78.9) Disorder of lipoprotein metabolism, unspecified
(E79) Disorders of purine and pyrimidine metabolism
(E79.0) Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
(E79.1) Lesch-Nyhan syndrome
(E79.2) Myoadenylate deaminase deficiency
(E79.8) Other disorders of purine and pyrimidine metabolism
(E79.9) Disorder of purine and pyrimidine metabolism, unspecified
(E80) Disorders of porphyrin and bilirubin metabolism
(E80.0) Hereditary erythropoietic porphyria
(E80.1) Porphyria cutanea tarda
(E80.2) Other and unspecified porphyria
(E80.20) Unspecified porphyria
(E80.21) Acute intermittent (hepatic) porphyria
(E80.29) Other porphyria
(E80.3) Defects of catalase and peroxidase
(E80.4) Gilbert syndrome
(E80.5) Crigler-Najjar syndrome
(E80.6) Other disorders of bilirubin metabolism
(E80.7) Disorder of bilirubin metabolism, unspecified
(E83) Disorders of mineral metabolism
(E83.0) Disorders of copper metabolism
(E83.00) Disorder of copper metabolism, unspecified
(E83.01) Wilson's disease
(E83.09) Other disorders of copper metabolism
(E83.1) Disorders of iron metabolism
(E83.10) Disorder of iron metabolism, unspecified
(E83.11) Hemochromatosis
(E83.110) Hereditary hemochromatosis
(E83.111) Hemochromatosis due to repeated red blood cell transfusions
(E83.118) Other hemochromatosis
(E83.119) Hemochromatosis, unspecified
(E83.19) Other disorders of iron metabolism
(E83.2) Disorders of zinc metabolism
(E83.3) Disorders of phosphorus metabolism and phosphatases
(E83.30) Disorder of phosphorus metabolism, unspecified
(E83.31) Familial hypophosphatemia
(E83.32) Hereditary vitamin D-dependent rickets (type 1) (type 2)
(E83.39) Other disorders of phosphorus metabolism
(E83.4) Disorders of magnesium metabolism
(E83.40) Disorders of magnesium metabolism, unspecified
(E83.41) Hypermagnesemia
(E83.42) Hypomagnesemia
(E83.49) Other disorders of magnesium metabolism
(E83.5) Disorders of calcium metabolism
(E83.50) Unspecified disorder of calcium metabolism
(E83.51) Hypocalcemia
(E83.52) Hypercalcemia
(E83.59) Other disorders of calcium metabolism
(E83.8) Other disorders of mineral metabolism
(E83.81) Hungry bone syndrome
(E83.89) Other disorders of mineral metabolism
(E83.9) Disorder of mineral metabolism, unspecified
(E84) Cystic fibrosis
(E84.0) Cystic fibrosis with pulmonary manifestations
(E84.1) Cystic fibrosis with intestinal manifestations
(E84.11) Meconium ileus in cystic fibrosis
(E84.19) Cystic fibrosis with other intestinal manifestations
(E84.8) Cystic fibrosis with other manifestations
(E84.9) Cystic fibrosis, unspecified
(E85) Amyloidosis
(E85.0) Non-neuropathic heredofamilial amyloidosis
(E85.1) Neuropathic heredofamilial amyloidosis
(E85.2) Heredofamilial amyloidosis, unspecified
(E85.3) Secondary systemic amyloidosis
(E85.4) Organ-limited amyloidosis
(E85.8) Other amyloidosis
(E85.9) Amyloidosis, unspecified
(E86) Volume depletion
(E86.0) Dehydration
(E86.1) Hypovolemia
(E86.9) Volume depletion, unspecified
(E87) Other disorders of fluid, electrolyte and acid-base balance
(E87.0) Hyperosmolality and hypernatremia
(E87.1) Hypo-osmolality and hyponatremia
(E87.2) Acidosis
(E87.3) Alkalosis
(E87.4) Mixed disorder of acid-base balance
(E87.5) Hyperkalemia
(E87.6) Hypokalemia
(E87.7) Fluid overload
(E87.70) Fluid overload, unspecified
(E87.71) Transfusion associated circulatory overload
(E87.79) Other fluid overload
(E87.8) Other disorders of electrolyte and fluid balance, not elsewhere classified
(E88) Other and unspecified metabolic disorders
